Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898746dup , CM000679.2:g.4898746dup | GRCh38 |
| NC_000017.10:g.4802041dup , CM000679.1:g.4802041dup | GRCh37 |
| NC_000017.9:g.4742820dup | NCBI36 |
| NG_008029.2:g.9330dup | |
| NG_028005.1:g.70407dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1472dup MANE Select | ENSP00000497829.1:p.Gln492ProfsTer23 | |
| ENST00000649830.1:c.*108dup | ENSP00000496907.1:n.*108dup | |
| ENST00000652550.1:n.1198dup | ||
| ENST00000293780.4:c.1472dup | ENSP00000293780.4:p.Gln492ProfsTer23 | |
| ENST00000572438.1:n.1158dup | ||
| NM_000080.3:c.1472dup | NP_000071.1:p.Gln492ProfsTer23 | |
| NM_000080.4:c.1472dup MANE Select | NP_000071.1:p.Gln492ProfsTer23 | |
| XM_017024115.1:c.1436dup | XP_016879604.1:p.Gln480ProfsTer23 |